| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000083 | Renal failure | |
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| HP:0000164 | Abnormality of the teeth | "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000488 | Retinopathy | |
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| HP:0000505 | Impaired vision | |
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| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000662 | Night blindness | |
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| HP:0000707 | Neurological abnormality | "An abnormality of the central or peripheral nervous system." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000739 | Anxiety | |
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| HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| HP:0000819 | Diabetes mellitus | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0000823 | Delayed puberty | |
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| HP:0000829 | Hypoparathyroidism | |
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| HP:0000846 | Adrenal insufficiency | |
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| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
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| HP:0000924 | Abnormality of the musculoskeletal system | "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] |
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| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
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| HP:0000952 | Jaundice | "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] |
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| HP:0000980 | Pallor | |
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| HP:0001081 | Cholelithiasis | |
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| HP:0001297 | Stroke | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001394 | Cirrhosis | |
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| HP:0001396 | Cholestasis | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001743 | Abnormality of the spleen | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001875 | Neutropenia | |
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| HP:0001878 | Hemolytic anemia | |
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| HP:0001891 | Iron deficiency anemia | |
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| HP:0001894 | Thrombocytosis | |
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| HP:0001903 | Anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0001930 | Nonspherocytic hemolytic anemia | |
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| HP:0001935 | Microcytic anemia | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0001945 | Fever | |
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| HP:0001971 | Hypersplenism | |
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| HP:0001974 | Leukocytosis | "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] |
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| HP:0002024 | Malabsorption | |
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| HP:0002027 | Abdominal pain | |
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| HP:0002092 | Pulmonary hypertension | |
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| HP:0002094 | Dyspnea | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002597 | Abnormality of the vasculature | |
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| HP:0002652 | Skeletal dysplasia | |
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| HP:0002718 | Recurrent bacterial infections | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002721 | Immunodeficiency | |
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| HP:0002754 | Osteomyelitis | |
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| HP:0002829 | Arthralgia | |
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| HP:0002857 | Genu valgum | |
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| HP:0002896 | Liver cancer | |
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| HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| HP:0003259 | Increased creatinine | |
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| HP:0003281 | Increased serum ferritin | |
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| HP:0003330 | Abnormal bone laboratory examination | |
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| HP:0003401 | Paresthesia | "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] |
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| HP:0004840 | hypochromic, microcytic anemia | |
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| HP:0004870 | chronic hemolytic anemia | |
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| HP:0004936 | Venous thrombosis | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0005511 | Congenital heinz body anemia | |
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| HP:0005518 | Erythrocyte macrocytosis | |
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| HP:0006543 | Cardiorespiratory arrest | |
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| HP:0007803 | Congenital complete achromatopsia | |
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| HP:0008282 | Unconjugated hyperbilirubinemia | |
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| HP:0008346 | Increased red cell sickling tendency | |
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| HP:0010620 | Prominent malar region | "Increased prominence of the malar region (cheeks)." [HPO:curators] |
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| HP:0010885 | Aseptic necrosis | "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] |
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| HP:0011675 | Arrhythmia | "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] |
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| HP:0011902 | Abnormal hemoglobin | "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] |
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| HP:0011904 | Persistence of hemoglobin F | "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [HPO:probinson] |
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| HP:0011906 | Reduced beta/alpha synthesis ratio | "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [HPO:probinson, pmid:1060068] |
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| HP:0011907 | Reduced alpha/beta synthesis ratio | "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [HPO:probinson] |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0011981 | Pigment gallstones | "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [HPO:probinson, pmid:12950109] |
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| HP:0012418 | Hypoxemia | "An abnormally low level of blood oxygen." [HPO:probinson] |
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| HP:0045040 | Abnormal lactate dehydrogenase activity | |
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| HP:0100749 | Chest pain | |
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| HP:0200023 | Priapism | "A painful and harmful medical condition in which the erect penis doesn t return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [HPO:SKOEHLER] |
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| HP:0200042 | skin ulcer | "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] |
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